{"count":36032,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=331","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=329","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11182","gene_name":"calpain 15","omim_gene":["603267"],"alias_name":null,"gene_symbol":"CAPN15","hgnc_symbol":"CAPN15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:577717-604636","ensembl_id":"ENSG00000103326"}},"GRch38":{"90":{"location":"16:527717-554636","ensembl_id":"ENSG00000103326"}}},"hgnc_date_symbol_changed":"2013-06-27"},"entity_type":"gene","entity_name":"CAPN15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32885237"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oculogastrointestinal neurodevelopmental syndrome\t619318","microphthalmia HP:0000568","coloboma HP:0000589"],"mode_of_inheritance":"BIALLELIC, autosomal or 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Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3091","gene_name":"dual specificity tyrosine phosphorylation regulated kinase 1A","omim_gene":["600855"],"alias_name":null,"gene_symbol":"DYRK1A","hgnc_symbol":"DYRK1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:38738092-38889753","ensembl_id":"ENSG00000157540"}},"GRch38":{"90":{"location":"21:37365790-37517450","ensembl_id":"ENSG00000157540"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"DYRK1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25707398","21294719","23160955","23099646","33159716"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 7, MIM# 614104","MONDO:0013578"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10520","RNF201","FANCW"],"biotype":"protein_coding","hgnc_id":"HGNC:25539","gene_name":"ring finger and WD repeat domain 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the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PMP35","PAF-1","RNF72","ZWS3"],"biotype":"protein_coding","hgnc_id":"HGNC:9717","gene_name":"peroxisomal biogenesis factor 2","omim_gene":["170993"],"alias_name":["Zellweger syndrome","peroxin 2"],"gene_symbol":"PEX2","hgnc_symbol":"PEX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77892494-77913280","ensembl_id":"ENSG00000164751"}},"GRch38":{"90":{"location":"8:76980258-77001044","ensembl_id":"ENSG00000164751"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"PEX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DBP-5","NREBP","KIAA1019","BASS1","FLJ21099","FLJ33914"],"biotype":"protein_coding","hgnc_id":"HGNC:11183","gene_name":"SON DNA binding protein","omim_gene":["182465"],"alias_name":["NRE-binding protein","negative regulatory element-binding protein","Bax antagonist selected in Saccharomyces 1"],"gene_symbol":"SON","hgnc_symbol":"SON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34914924-34949812","ensembl_id":"ENSG00000159140"}},"GRch38":{"90":{"location":"21:33542618-33577481","ensembl_id":"ENSG00000159140"}}},"hgnc_date_symbol_changed":"1994-08-05"},"entity_type":"gene","entity_name":"SON","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["ZTTK syndrome MIM#617140"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IGDCC1","NTN1R1"],"biotype":"protein_coding","hgnc_id":"HGNC:2701","gene_name":"DCC netrin 1 receptor","omim_gene":["120470"],"alias_name":["immunoglobulin superfamily, DCC subclass, member 1"],"gene_symbol":"DCC","hgnc_symbol":"DCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:49866542-51057784","ensembl_id":"ENSG00000187323"}},"GRch38":{"90":{"location":"18:52340172-53535903","ensembl_id":"ENSG00000187323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"DCC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19894250"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cerebrooculofacioskeletal syndrome 1, MIM# 214150","MONDO:0008955","Cockayne syndrome, type B, MIM# 133540","MONDO:0019570","De Sanctis-Cacchione syndrome, MIM# 278800","MONDO:0010217","UV-sensitive syndrome 1, MIM# 600630","MONDO:0010909"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Dnahc9","KIAA0357","HL20","HL-20","DNAL1","DYH9"],"biotype":"protein_coding","hgnc_id":"HGNC:2953","gene_name":"dynein axonemal heavy chain 9","omim_gene":["603330"],"alias_name":null,"gene_symbol":"DNAH9","hgnc_symbol":"DNAH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:11501748-11873065","ensembl_id":"ENSG00000007174"}},"GRch38":{"90":{"location":"17:11598431-11969748","ensembl_id":"ENSG00000007174"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"DNAH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30471717","30471718","33610189","39523437","38884051"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 40, MIM# 618300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32173","MGC16028"],"biotype":"protein_coding","hgnc_id":"HGNC:29669","gene_name":"intraflagellar transport 43","omim_gene":["614068"],"alias_name":null,"gene_symbol":"IFT43","hgnc_symbol":"IFT43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76368479-76550928","ensembl_id":"ENSG00000119650"}},"GRch38":{"90":{"location":"14:75902136-76084585","ensembl_id":"ENSG00000119650"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"IFT43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28400947","28973684","21378380"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866","Retinitis pigmentosa 81 , MIM#617871","Cranioectodermal dysplasia 3, MIM# 614099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:941","gene_name":"BCL2 associated athanogene 5","omim_gene":["603885"],"alias_name":null,"gene_symbol":"BAG5","hgnc_symbol":"BAG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:104022881-104029168","ensembl_id":"ENSG00000166170"}},"GRch38":{"90":{"location":"14:103556544-103562831","ensembl_id":"ENSG00000166170"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"BAG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35044787"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiomyopathy, dilated, 2F, MIM#\t619747"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GALA"],"biotype":"protein_coding","hgnc_id":"HGNC:4296","gene_name":"galactosidase alpha","omim_gene":["300644"],"alias_name":null,"gene_symbol":"GLA","hgnc_symbol":"GLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100652791-100662913","ensembl_id":"ENSG00000102393"}},"GRch38":{"90":{"location":"X:101397803-101407925","ensembl_id":"ENSG00000102393"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Fabry disease, MIM# 301500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MYH"],"biotype":"protein_coding","hgnc_id":"HGNC:7527","gene_name":"mutY DNA glycosylase","omim_gene":["604933"],"alias_name":null,"gene_symbol":"MUTYH","hgnc_symbol":"MUTYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45794835-45806142","ensembl_id":"ENSG00000132781"}},"GRch38":{"90":{"location":"1:45329163-45340470","ensembl_id":"ENSG00000132781"}}},"hgnc_date_symbol_changed":"1997-10-24"},"entity_type":"gene","entity_name":"MUTYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ45472"],"biotype":"protein_coding","hgnc_id":"HGNC:4235","gene_name":"glial fibrillary acidic protein","omim_gene":["137780"],"alias_name":["intermediate filament protein"],"gene_symbol":"GFAP","hgnc_symbol":"GFAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42982376-42994305","ensembl_id":"ENSG00000131095"}},"GRch38":{"90":{"location":"17:44903161-44916937","ensembl_id":"ENSG00000131095"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"GFAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACP33","GL010","BM-019","MAST"],"biotype":"protein_coding","hgnc_id":"HGNC:20373","gene_name":"SPG21, maspardin","omim_gene":["608181"],"alias_name":null,"gene_symbol":"SPG21","hgnc_symbol":"SPG21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65255362-65282648","ensembl_id":"ENSG00000090487"}},"GRch38":{"90":{"location":"15:64963021-64990310","ensembl_id":"ENSG00000090487"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"SPG21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14564668","24451228","28752238","26978163"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mast syndrome, MIM# 248900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dj747L4.1","TPIT"],"biotype":"protein_coding","hgnc_id":"HGNC:11596","gene_name":"T-box 19","omim_gene":["604614"],"alias_name":["TBS 19"],"gene_symbol":"TBX19","hgnc_symbol":"TBX19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:168250278-168283664","ensembl_id":"ENSG00000143178"}},"GRch38":{"90":{"location":"1:168281040-168314426","ensembl_id":"ENSG00000143178"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"TBX19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15613420, 31998673, 11290323, 15476446, 22170728"],"evidence":["Expert List","Expert Review Green"],"phenotypes":["Adrenocorticotropic hormone deficiency, 201400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1441"],"biotype":"protein_coding","hgnc_id":"HGNC:29277","gene_name":"zinc finger protein 687","omim_gene":["610568"],"alias_name":null,"gene_symbol":"ZNF687","hgnc_symbol":"ZNF687","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151254094-151264656","ensembl_id":"ENSG00000143373"}},"GRch38":{"90":{"location":"1:151281618-151292180","ensembl_id":"ENSG00000143373"}}},"hgnc_date_symbol_changed":"2005-05-06"},"entity_type":"gene","entity_name":"ZNF687","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26849110","29493781","32106343"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Paget disease of bone 6, MIM#616833"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1857","Lmnt2"],"biotype":"protein_coding","hgnc_id":"HGNC:14288","gene_name":"netrin G2","omim_gene":null,"alias_name":["Netrin-G2"],"gene_symbol":"NTNG2","hgnc_symbol":"NTNG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135037334-135119921","ensembl_id":"ENSG00000196358"}},"GRch38":{"90":{"location":"9:132161676-132244534","ensembl_id":"ENSG00000196358"}}},"hgnc_date_symbol_changed":"2003-12-03"},"entity_type":"gene","entity_name":"NTNG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31668703"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual disability","autism","dysmorphic features","Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VPS4","VPS4-1","FLJ22197","SKD2","SKD1","SKD1A"],"biotype":"protein_coding","hgnc_id":"HGNC:13488","gene_name":"vacuolar protein sorting 4 homolog A","omim_gene":["609982"],"alias_name":null,"gene_symbol":"VPS4A","hgnc_symbol":"VPS4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:69345259-69358949","ensembl_id":"ENSG00000132612"}},"GRch38":{"90":{"location":"16:69311356-69326939","ensembl_id":"ENSG00000132612"}}},"hgnc_date_symbol_changed":"2002-06-12"},"entity_type":"gene","entity_name":"VPS4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 33186543","33186545"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CIMDAG syndrome MIM# 619273"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11536079","28102862","33005041","34355424"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arterial calcification, generalized, of infancy, 2, MIM# 614473","Pseudoxanthoma elasticum, MIM# 264800","Pseudoxanthoma elasticum, forme fruste, MIM#177850"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV","treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:467","gene_name":"Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1","omim_gene":["300195"],"alias_name":null,"gene_symbol":"AMMECR1","hgnc_symbol":"AMMECR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:109437414-109683461","ensembl_id":"ENSG00000101935"}},"GRch38":{"90":{"location":"X:110194186-110440233","ensembl_id":"ENSG00000101935"}}},"hgnc_date_symbol_changed":"1998-06-22"},"entity_type":"gene","entity_name":"AMMECR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27811305","28089922","29193635"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRF3","FLJ34705","AN","NSDAN"],"biotype":"protein_coding","hgnc_id":"HGNC:15480","gene_name":"diaphanous related formin 3","omim_gene":["614567"],"alias_name":null,"gene_symbol":"DIAPH3","hgnc_symbol":"DIAPH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:60239717-60738121","ensembl_id":"ENSG00000139734"}},"GRch38":{"90":{"location":"13:59665583-60163987","ensembl_id":"ENSG00000139734"}}},"hgnc_date_symbol_changed":"2001-05-02"},"entity_type":"gene","entity_name":"DIAPH3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23441200","20624953"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Auditory neuropathy, autosomal dominant, 1, MIM#609129"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DLP12","Dnahc3","HL-19","hdhc3","DHC3","FLJ40427","FLJ44290"],"biotype":"protein_coding","hgnc_id":"HGNC:2943","gene_name":"dynein axonemal heavy chain 12","omim_gene":["603340"],"alias_name":null,"gene_symbol":"DNAH12","hgnc_symbol":"DNAH12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57327727-57530071","ensembl_id":"ENSG00000174844"}},"GRch38":{"90":{"location":"3:57293699-57544344","ensembl_id":"ENSG00000174844"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"DNAH12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39071892","40146200"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 100, MIM# 621209"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1544","BCL8B","FLJ10197","LYST2"],"biotype":"protein_coding","hgnc_id":"HGNC:7648","gene_name":"neurobeachin","omim_gene":["604889"],"alias_name":null,"gene_symbol":"NBEA","hgnc_symbol":"NBEA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:35516424-36247159","ensembl_id":"ENSG00000172915"}},"GRch38":{"90":{"location":"13:34942287-35673022","ensembl_id":"ENSG00000172915"}}},"hgnc_date_symbol_changed":"1999-12-16"},"entity_type":"gene","entity_name":"NBEA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269351","28554332","12746398","12826745","11450821","3377648","23277425","22109531","23153818"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157","Intellectual disability","Seizures"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4731","version_created":"2026-04-07T13:50:51.698509+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9082","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 2","omim_gene":["601865"],"alias_name":["lysyl hydroxlase 2","procollagen-lysine 5-dioxygenase"],"gene_symbol":"PLOD2","hgnc_symbol":"PLOD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:145787227-145881440","ensembl_id":"ENSG00000152952"}},"GRch38":{"90":{"location":"3:146069440-146163653","ensembl_id":"ENSG00000152952"}}},"hgnc_date_symbol_changed":"1996-12-18"},"entity_type":"gene","entity_name":"PLOD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12881513","15523624","22689593"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bruck syndrome 2, MIM# 609220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14974","gene_name":"sorting nexin 10","omim_gene":["614780"],"alias_name":null,"gene_symbol":"SNX10","hgnc_symbol":"SNX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:26331541-26413949","ensembl_id":"ENSG00000086300"}},"GRch38":{"90":{"location":"7:26291895-26374329","ensembl_id":"ENSG00000086300"}}},"hgnc_date_symbol_changed":"2001-04-10"},"entity_type":"gene","entity_name":"SNX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22499339","23123320","30885997","32048120","32278070"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 8 MIM#615085"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RecQ4"],"biotype":"protein_coding","hgnc_id":"HGNC:9949","gene_name":"RecQ like helicase 4","omim_gene":["603780"],"alias_name":null,"gene_symbol":"RECQL4","hgnc_symbol":"RECQL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145736667-145743229","ensembl_id":"ENSG00000160957"}},"GRch38":{"90":{"location":"8:144511288-144517845","ensembl_id":"ENSG00000160957"}}},"hgnc_date_symbol_changed":"2014-03-07"},"entity_type":"gene","entity_name":"RECQL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:967","gene_name":"Bardet-Biedl syndrome 2","omim_gene":["606151"],"alias_name":null,"gene_symbol":"BBS2","hgnc_symbol":"BBS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56500748-56554195","ensembl_id":"ENSG00000125124"}},"GRch38":{"90":{"location":"16:56466836-56520283","ensembl_id":"ENSG00000125124"}}},"hgnc_date_symbol_changed":"1993-10-26"},"entity_type":"gene","entity_name":"BBS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5136","gene_name":"homeobox D13","omim_gene":["142989"],"alias_name":null,"gene_symbol":"HOXD13","hgnc_symbol":"HOXD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176957619-176960666","ensembl_id":"ENSG00000128714"}},"GRch38":{"90":{"location":"2:176092891-176095938","ensembl_id":"ENSG00000128714"}}},"hgnc_date_symbol_changed":"1991-05-08"},"entity_type":"gene","entity_name":"HOXD13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34777468","12649808"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brachydactyly, type E, 113300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":161,"hash_id":null,"name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, and phenocopy disorders.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' panel V1.5, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"0.33","version_created":"2025-08-26T20:19:58.071270+10:00","relevant_disorders":["Pseudohypoparathyroidism","HP:0000093"],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AF5Q31","MCEF"],"biotype":"protein_coding","hgnc_id":"HGNC:17869","gene_name":"AF4/FMR2 family member 4","omim_gene":["604417"],"alias_name":["ALL1 fused gene from 5q31"],"gene_symbol":"AFF4","hgnc_symbol":"AFF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:132211071-132299326","ensembl_id":"ENSG00000072364"}},"GRch38":{"90":{"location":"5:132875379-132963634","ensembl_id":"ENSG00000072364"}}},"hgnc_date_symbol_changed":"2005-06-27"},"entity_type":"gene","entity_name":"AFF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31058441","25730767"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["CHOPS syndrome, MIM#\t616368"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAA","FA-H","FAH"],"biotype":"protein_coding","hgnc_id":"HGNC:3582","gene_name":"Fanconi anemia complementation group A","omim_gene":["607139"],"alias_name":null,"gene_symbol":"FANCA","hgnc_symbol":"FANCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89803957-89883065","ensembl_id":"ENSG00000187741"}},"GRch38":{"90":{"location":"16:89737549-89816657","ensembl_id":"ENSG00000187741"}}},"hgnc_date_symbol_changed":"1995-12-22"},"entity_type":"gene","entity_name":"FANCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10094191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group A, MIM# 227650","MONDO:0009215"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6831","gene_name":"mannosidase beta","omim_gene":["609489"],"alias_name":["beta-mannosidase A"],"gene_symbol":"MANBA","hgnc_symbol":"MANBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103552660-103682151","ensembl_id":"ENSG00000109323"}},"GRch38":{"90":{"location":"4:102631488-102760994","ensembl_id":"ENSG00000109323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"MANBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mannosidosis, beta, MIM# 248510","MONDO:0009562"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NCS2"],"biotype":"protein_coding","hgnc_id":"HGNC:28005","gene_name":"cytosolic thiouridylase subunit 2","omim_gene":["617057"],"alias_name":null,"gene_symbol":"CTU2","hgnc_symbol":"CTU2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88772871-88781794","ensembl_id":"ENSG00000174177"}},"GRch38":{"90":{"location":"16:88706463-88715386","ensembl_id":"ENSG00000174177"}}},"hgnc_date_symbol_changed":"2009-08-19"},"entity_type":"gene","entity_name":"CTU2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27480277","33559988"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NCoA-62","SKIP","Prp45","PRPF45","Bx42","SKIP1","FUN20"],"biotype":"protein_coding","hgnc_id":"HGNC:16696","gene_name":"SNW domain containing 1","omim_gene":["603055"],"alias_name":null,"gene_symbol":"SNW1","hgnc_symbol":"SNW1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:78183942-78227550","ensembl_id":"ENSG00000100603"}},"GRch38":{"90":{"location":"14:77717599-77761207","ensembl_id":"ENSG00000100603"}}},"hgnc_date_symbol_changed":"2005-09-13"},"entity_type":"gene","entity_name":"SNW1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40608414"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), SNW1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0309","EAF1","SWR1","DOMO1"],"biotype":"protein_coding","hgnc_id":"HGNC:16974","gene_name":"Snf2 related CREBBP activator protein","omim_gene":["611421"],"alias_name":["Swi2/Snf2-related ATPase homolog (S. cerevisiae)","domino homolog 1 (Drosophila)"],"gene_symbol":"SRCAP","hgnc_symbol":"SRCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30709530-30755602","ensembl_id":"ENSG00000080603"}},"GRch38":{"90":{"location":"16:30698209-30741409","ensembl_id":"ENSG00000080603"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"SRCAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23193612","23621943"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595","Floating-Harbor syndrome MIM#136140"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ISA2"],"biotype":"protein_coding","hgnc_id":"HGNC:19857","gene_name":"iron-sulfur cluster assembly 2","omim_gene":["615317"],"alias_name":null,"gene_symbol":"ISCA2","hgnc_symbol":"ISCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74960423-74963809","ensembl_id":"ENSG00000165898"}},"GRch38":{"90":{"location":"14:74493720-74497106","ensembl_id":"ENSG00000165898"}}},"hgnc_date_symbol_changed":"2007-01-18"},"entity_type":"gene","entity_name":"ISCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25539947","29297947","29122497","29359243"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":437,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p21cdc42Hs","ACK","ACK1"],"biotype":"protein_coding","hgnc_id":"HGNC:19297","gene_name":"tyrosine kinase non receptor 2","omim_gene":["606994"],"alias_name":["activated Cdc42-associated kinase 1"],"gene_symbol":"TNK2","hgnc_symbol":"TNK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195590235-195638816","ensembl_id":"ENSG00000061938"}},"GRch38":{"90":{"location":"3:195863364-195911945","ensembl_id":"ENSG00000061938"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"TNK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27977884","23686771","31517310"],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber"],"phenotypes":["late onset infantile epilepsy","Mayer-Rokitansky-Küster-Hauser syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24553428","23181892","20673864"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Perrault syndrome 1, MIM# 233400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16513","gene_name":"transmembrane channel like 1","omim_gene":["606706"],"alias_name":null,"gene_symbol":"TMC1","hgnc_symbol":"TMC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:75136717-75451267","ensembl_id":"ENSG00000165091"}},"GRch38":{"90":{"location":"9:72521801-72836351","ensembl_id":"ENSG00000165091"}}},"hgnc_date_symbol_changed":"2001-10-08"},"entity_type":"gene","entity_name":"TMC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11850618","17250663","18616530","24827932","11850623","22105175"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 36, MIM# 606705","Deafness, autosomal recessive 7, MIM# 600974"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1171","TLDC6","DFNA65"],"biotype":"protein_coding","hgnc_id":"HGNC:29203","gene_name":"TBC1 domain family member 24","omim_gene":["613577"],"alias_name":["TBC/LysM-associated domain containing 6","skywalker homolog (Drosophila)"],"gene_symbol":"TBC1D24","hgnc_symbol":"TBC1D24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2525147-2555735","ensembl_id":"ENSG00000162065"}},"GRch38":{"90":{"location":"16:2475051-2509560","ensembl_id":"ENSG00000162065"}}},"hgnc_date_symbol_changed":"2006-04-07"},"entity_type":"gene","entity_name":"TBC1D24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24729539","24729547","24387994","24291220"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["DOORS syndrome, MIM#220500","Deafness, autosomal dominant 65, MIM#616044","Deafness , autosomal recessive 86, MIM#614617"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAGK6","DGK"],"biotype":"protein_coding","hgnc_id":"HGNC:2852","gene_name":"diacylglycerol kinase epsilon","omim_gene":["601440"],"alias_name":null,"gene_symbol":"DGKE","hgnc_symbol":"DGKE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:54911460-54946036","ensembl_id":"ENSG00000153933"}},"GRch38":{"90":{"location":"17:56834099-56869567","ensembl_id":"ENSG00000153933"}}},"hgnc_date_symbol_changed":"1998-10-02"},"entity_type":"gene","entity_name":"DGKE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23274426","23542698"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Nephrotic syndrome, type 7, MIM# 615008"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":211,"hash_id":null,"name":"Atypical Haemolytic Uraemic Syndrome_MPGN","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"Renal complement disorders panel including atypical Haemolytic Uraemic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN).\r\n\r\nThis panel was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS and RMH.\r\n\r\nThe contents of this panel have been compared against the Genomics England PanelApp aHUS and MPGN panels, and discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England. 09/01/2020","status":"public","version":"1.0","version_created":"2026-03-24T16:31:25.995226+11:00","relevant_disorders":["Haemolytic anaemia","HP:0001878"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P115-RHOGEF","SUB1.5","LBCL2"],"biotype":"protein_coding","hgnc_id":"HGNC:681","gene_name":"Rho guanine nucleotide exchange factor 1","omim_gene":["601855"],"alias_name":null,"gene_symbol":"ARHGEF1","hgnc_symbol":"ARHGEF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42387228-42434302","ensembl_id":"ENSG00000076928"}},"GRch38":{"90":{"location":"19:41883161-41930150","ensembl_id":"ENSG00000076928"}}},"hgnc_date_symbol_changed":"2000-03-10"},"entity_type":"gene","entity_name":"ARHGEF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32048120","30521495","16286020"],"evidence":["Expert Review Amber","Expert list","Literature"],"phenotypes":["Immunodeficiency 62, MIM#618459"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AITR","GITR","CD357"],"biotype":"protein_coding","hgnc_id":"HGNC:11914","gene_name":"TNF receptor superfamily member 18","omim_gene":["603905"],"alias_name":null,"gene_symbol":"TNFRSF18","hgnc_symbol":"TNFRSF18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1138888-1142071","ensembl_id":"ENSG00000186891"}},"GRch38":{"90":{"location":"1:1203508-1206691","ensembl_id":"ENSG00000186891"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFRSF18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PP1030","AP-5","DKFZp761E198"],"biotype":"protein_coding","hgnc_id":"HGNC:25104","gene_name":"adaptor related protein complex 5 beta 1 subunit","omim_gene":["614367"],"alias_name":null,"gene_symbol":"AP5B1","hgnc_symbol":"AP5B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65543364-65548273","ensembl_id":"ENSG00000254470"}},"GRch38":{"90":{"location":"11:65775893-65780802","ensembl_id":"ENSG00000254470"}}},"hgnc_date_symbol_changed":"2012-02-27"},"entity_type":"gene","entity_name":"AP5B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40081374","41830174"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EIF2Bgamma","EIF-2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3259","gene_name":"eukaryotic translation initiation factor 2B subunit gamma","omim_gene":["606273"],"alias_name":null,"gene_symbol":"EIF2B3","hgnc_symbol":"EIF2B3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45316450-45452282","ensembl_id":"ENSG00000070785"}},"GRch38":{"90":{"location":"1:44850522-44986722","ensembl_id":"ENSG00000070785"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter, 603896 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Miller syndrome, 263750 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Pseudoxanthoma elasticum, MIM# 264800","Pseudoxanthoma elasticum, forme fruste, MIM# 177850"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARP5","AGF"],"biotype":"protein_coding","hgnc_id":"HGNC:23140","gene_name":"angiopoietin like 6","omim_gene":["609336"],"alias_name":["angiopoietin-related protein 5"],"gene_symbol":"ANGPTL6","hgnc_symbol":"ANGPTL6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10203014-10213472","ensembl_id":"ENSG00000130812"}},"GRch38":{"90":{"location":"19:10092338-10102796","ensembl_id":"ENSG00000130812"}}},"hgnc_date_symbol_changed":"2003-09-24"},"entity_type":"gene","entity_name":"ANGPTL6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29304371","33106390"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebral aneurysm"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SWS1"],"biotype":"protein_coding","hgnc_id":"HGNC:26993","gene_name":"zinc finger SWIM-type containing 7","omim_gene":["614535"],"alias_name":["SWIM domain containing Srs2 interacting protein 1"],"gene_symbol":"ZSWIM7","hgnc_symbol":"ZSWIM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:15879874-15903031","ensembl_id":"ENSG00000214941"}},"GRch38":{"90":{"location":"17:15976560-15999717","ensembl_id":"ENSG00000214941"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"ZSWIM7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40991243","34402903"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primary ovarian failure, MONDO:0005387"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ842G6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:15899","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 5","omim_gene":["612360"],"alias_name":null,"gene_symbol":"NDUFAF5","hgnc_symbol":"NDUFAF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:13765596-13799067","ensembl_id":"ENSG00000101247"}},"GRch38":{"90":{"location":"20:13784950-13821582","ensembl_id":"ENSG00000101247"}}},"hgnc_date_symbol_changed":"2012-05-08"},"entity_type":"gene","entity_name":"NDUFAF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 16, 616238"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SGC","A3b"],"biotype":"protein_coding","hgnc_id":"HGNC:10806","gene_name":"sarcoglycan beta","omim_gene":["600900"],"alias_name":null,"gene_symbol":"SGCB","hgnc_symbol":"SGCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:52886872-52904648","ensembl_id":"ENSG00000163069"}},"GRch38":{"90":{"location":"4:52020706-52038482","ensembl_id":"ENSG00000163069"}}},"hgnc_date_symbol_changed":"1995-01-24"},"entity_type":"gene","entity_name":"SGCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2E"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCLH","DC","LISX","DBCN","XLIS"],"biotype":"protein_coding","hgnc_id":"HGNC:2714","gene_name":"doublecortin","omim_gene":["300121"],"alias_name":["doublecortex"],"gene_symbol":"DCX","hgnc_symbol":"DCX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:110537007-110655603","ensembl_id":"ENSG00000077279"}},"GRch38":{"90":{"location":"X:111293779-111412429","ensembl_id":"ENSG00000077279"}}},"hgnc_date_symbol_changed":"1998-03-24"},"entity_type":"gene","entity_name":"DCX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Lissencephaly, X-linked, MIM# 300067"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32670","LH2D1"],"biotype":"protein_coding","hgnc_id":"HGNC:26521","gene_name":"lipoxygenase homology domains 1","omim_gene":["613072"],"alias_name":null,"gene_symbol":"LOXHD1","hgnc_symbol":"LOXHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:44056935-44236996","ensembl_id":"ENSG00000167210"}},"GRch38":{"90":{"location":"18:46476972-46657033","ensembl_id":"ENSG00000167210"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"LOXHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S29"],"biotype":"protein_coding","hgnc_id":"HGNC:10419","gene_name":"ribosomal protein S29","omim_gene":["603633"],"alias_name":null,"gene_symbol":"RPS29","hgnc_symbol":"RPS29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50043390-50065408","ensembl_id":"ENSG00000213741"}},"GRch38":{"90":{"location":"14:49570984-49599164","ensembl_id":"ENSG00000213741"}}},"hgnc_date_symbol_changed":"1997-07-04"},"entity_type":"gene","entity_name":"RPS29","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24829207"],"evidence":["Expert Review Amber","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anaemia 13, MIM# 615909"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:144","gene_name":"actin gamma 1","omim_gene":["102560"],"alias_name":null,"gene_symbol":"ACTG1","hgnc_symbol":"ACTG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79476997-79490873","ensembl_id":"ENSG00000184009"}},"GRch38":{"90":{"location":"17:81509971-81523847","ensembl_id":"ENSG00000184009"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"ACTG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22366783"],"evidence":["Expert Review Green"],"phenotypes":["Baraitser-Winter syndrome 2, MIM# 614583"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AP19","SIGMA1A","WUGSC:H_DJ0747G18.2"],"biotype":"protein_coding","hgnc_id":"HGNC:559","gene_name":"adaptor related protein complex 1 sigma 1 subunit","omim_gene":["603531"],"alias_name":["clathrin-associated/assembly/adaptor protein, small 1 (19kD)","clathrin coat assembly protein AP19","sigma1A subunit of AP-1 clathrin adaptor complex","AP-1 complex subunit sigma-1A","sigma1A-adaptin","golgi adaptor HA1/AP1 adaptin sigma-1A subunit","clathrin assembly protein complex 1 sigma-1A small chain","HA1 19 kDa subunit"],"gene_symbol":"AP1S1","hgnc_symbol":"AP1S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100797678-100804877","ensembl_id":"ENSG00000106367"}},"GRch38":{"90":{"location":"7:101154397-101161596","ensembl_id":"ENSG00000106367"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31399000"],"evidence":["Expert Review Green"],"phenotypes":["MEDNIK syndrome MONDO:0012251","Disorders of copper metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HuF2","ZGRF6"],"biotype":"protein_coding","hgnc_id":"HGNC:12398","gene_name":"transcription termination factor 2","omim_gene":["604718"],"alias_name":["zinc finger, GRF-type containing 6","transcription release factor 2"],"gene_symbol":"TTF2","hgnc_symbol":"TTF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:117602925-117650075","ensembl_id":"ENSG00000116830"}},"GRch38":{"90":{"location":"1:117060303-117107453","ensembl_id":"ENSG00000116830"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"TTF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30022773"],"evidence":["Expert Review Red","Literature"],"phenotypes":["congenital hypothyroidism, thyroid dysgenesis, No OMIM #"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0458","ARP","ARG","DNB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9965","gene_name":"arginine-glutamic acid dipeptide repeats","omim_gene":["605226"],"alias_name":null,"gene_symbol":"RERE","hgnc_symbol":"RERE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:8412457-8877702","ensembl_id":"ENSG00000142599"}},"GRch38":{"90":{"location":"1:8352397-8817643","ensembl_id":"ENSG00000142599"}}},"hgnc_date_symbol_changed":"2000-05-19"},"entity_type":"gene","entity_name":"RERE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27087320","29330883"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM#\t616975"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3498,"hash_id":null,"name":"Choanal atresia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.6","version_created":"2024-10-03T11:49:26.278825+10:00","relevant_disorders":["Choanal atresia HP:0000453"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GBA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4177","gene_name":"glucosylceramidase beta","omim_gene":["606463"],"alias_name":null,"gene_symbol":"GBA","hgnc_symbol":"GBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155204243-155214490","ensembl_id":"ENSG00000177628"}},"GRch38":{"90":{"location":"1:155234452-155244699","ensembl_id":"ENSG00000177628"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30712880","12838552"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Gaucher disease, perinatal lethal, MIM# 608013"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["nM15"],"biotype":"protein_coding","hgnc_id":"HGNC:6814","gene_name":"MAGE family member L2","omim_gene":["605283"],"alias_name":null,"gene_symbol":"MAGEL2","hgnc_symbol":"MAGEL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:23888691-23891175","ensembl_id":"ENSG00000254585"}},"GRch38":{"90":{"location":"15:23643544-23647841","ensembl_id":"ENSG00000254585"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"MAGEL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26365340","27195816","24076603","31397880","29599419","30302899"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Schaaf-Yang syndrome, MIM# 615547"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S2P"],"biotype":"protein_coding","hgnc_id":"HGNC:15455","gene_name":"membrane bound transcription factor peptidase, site 2","omim_gene":["300294"],"alias_name":["site-2 protease"],"gene_symbol":"MBTPS2","hgnc_symbol":"MBTPS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21857754-21903542","ensembl_id":"ENSG00000012174"}},"GRch38":{"90":{"location":"X:21839636-21885424","ensembl_id":"ENSG00000012174"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27380894","19361614","21426410"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["IFAP syndrome with or without BRESHECK syndrome MIM#308205","Osteogenesis imperfecta, type XIX, MIM#301014"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9077","gene_name":"polo like kinase 1","omim_gene":["602098"],"alias_name":null,"gene_symbol":"PLK1","hgnc_symbol":"PLK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23688977-23701688","ensembl_id":"ENSG00000166851"}},"GRch38":{"90":{"location":"16:23677656-23690367","ensembl_id":"ENSG00000166851"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"PLK1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33875846"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, PLK1-related, MONDO:0700092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBP2"],"biotype":"protein_coding","hgnc_id":"HGNC:30972","gene_name":"SECIS binding protein 2","omim_gene":["607693"],"alias_name":["Sec insertion sequence-binding protein 2"],"gene_symbol":"SECISBP2","hgnc_symbol":"SECISBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:91933421-91974557","ensembl_id":"ENSG00000187742"}},"GRch38":{"90":{"location":"9:89318506-89359662","ensembl_id":"ENSG00000187742"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"SECISBP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16228000","19602558","21084748","22247018"],"evidence":["Expert Review Red","Genomics England PanelApp","Literature"],"phenotypes":["Thyroid hormone metabolism, abnormal, MIM# 609698"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21918"],"biotype":"protein_coding","hgnc_id":"HGNC:26152","gene_name":"epithelial splicing regulatory protein 2","omim_gene":["612960"],"alias_name":null,"gene_symbol":"ESRP2","hgnc_symbol":"ESRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68263014-68272005","ensembl_id":"ENSG00000103067"}},"GRch38":{"90":{"location":"16:68229111-68238102","ensembl_id":"ENSG00000103067"}}},"hgnc_date_symbol_changed":"2009-03-10"},"entity_type":"gene","entity_name":"ESRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29805042","39179789","41111330","33234718"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Orofacial cleft MONDO:0000358, ESRP2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15322546","15467982","16453322","29146704"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 3, MIM# 608629"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD42a","GPIX"],"biotype":"protein_coding","hgnc_id":"HGNC:4444","gene_name":"glycoprotein IX platelet","omim_gene":["173515"],"alias_name":["platelet glycoprotein IX"],"gene_symbol":"GP9","hgnc_symbol":"GP9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128779610-128781249","ensembl_id":"ENSG00000169704"}},"GRch38":{"90":{"location":"3:129060767-129062406","ensembl_id":"ENSG00000169704"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"GP9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bernard-Soulier syndrome (BSS)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCSP","NKH"],"biotype":"protein_coding","hgnc_id":"HGNC:4313","gene_name":"glycine decarboxylase","omim_gene":["238300"],"alias_name":["glycine cleavage system protein P","glycine dehydrogenase"],"gene_symbol":"GLDC","hgnc_symbol":"GLDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:6532464-6645650","ensembl_id":"ENSG00000178445"}},"GRch38":{"90":{"location":"9:6532464-6645783","ensembl_id":"ENSG00000178445"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"GLDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36817643","34513771"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycine encephalopathy, 605899 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD40L","TRAP","gp39","hCD40L","CD154"],"biotype":"protein_coding","hgnc_id":"HGNC:11935","gene_name":"CD40 ligand","omim_gene":["300386"],"alias_name":["CD40 antigen ligand","tumor necrosis factor (ligand) superfamily member 5","T-B cell-activating molecule","TNF-related activation protein","hyper-IgM syndrome"],"gene_symbol":"CD40LG","hgnc_symbol":"CD40LG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135730352-135742549","ensembl_id":"ENSG00000102245"}},"GRch38":{"90":{"location":"X:136648193-136660390","ensembl_id":"ENSG00000102245"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40LG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7679801","7679206","8094231","9933119","15358621","15997875","7678782","7915248","15367912","7518839","16311023","9933119","12402041","7882172","33475257"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARC41","p40-ARC","p41-ARC"],"biotype":"protein_coding","hgnc_id":"HGNC:704","gene_name":"actin related protein 2/3 complex subunit 1B","omim_gene":["604223"],"alias_name":["ARP2/3 protein complex subunit p41","actin related protein 2/3 complex, subunit 1A (41 kD)"],"gene_symbol":"ARPC1B","hgnc_symbol":"ARPC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:98971872-98992424","ensembl_id":"ENSG00000130429"}},"GRch38":{"90":{"location":"7:99374249-99394801","ensembl_id":"ENSG00000130429"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"ARPC1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Isl-1","ISLET1"],"biotype":"protein_coding","hgnc_id":"HGNC:6132","gene_name":"ISL LIM homeobox 1","omim_gene":["600366"],"alias_name":null,"gene_symbol":"ISL1","hgnc_symbol":"ISL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:50678921-50690564","ensembl_id":"ENSG00000016082"}},"GRch38":{"90":{"location":"5:51383391-51394738","ensembl_id":"ENSG00000016082"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"ISL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Diabetes, type 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TGASE","TGK","LI","LI1"],"biotype":"protein_coding","hgnc_id":"HGNC:11777","gene_name":"transglutaminase 1","omim_gene":["190195"],"alias_name":["K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"],"gene_symbol":"TGM1","hgnc_symbol":"TGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24718320-24733638","ensembl_id":"ENSG00000092295"}},"GRch38":{"90":{"location":"14:24249114-24264432","ensembl_id":"ENSG00000092295"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"TGM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1620"],"biotype":"protein_coding","hgnc_id":"HGNC:13797","gene_name":"periaxin","omim_gene":["605725"],"alias_name":null,"gene_symbol":"PRX","hgnc_symbol":"PRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40899675-40919273","ensembl_id":"ENSG00000105227"}},"GRch38":{"90":{"location":"19:40393768-40413366","ensembl_id":"ENSG00000105227"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PRX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, type 4F, MIM# 614895","Dejerine-Sottas disease, MIM# 145900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SYM1"],"biotype":"protein_coding","hgnc_id":"HGNC:7224","gene_name":"MPV17, mitochondrial inner membrane protein","omim_gene":["137960"],"alias_name":["glomerulosclerosis"],"gene_symbol":"MPV17","hgnc_symbol":"MPV17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27532360-27548547","ensembl_id":"ENSG00000115204"}},"GRch38":{"90":{"location":"2:27309492-27325680","ensembl_id":"ENSG00000115204"}}},"hgnc_date_symbol_changed":"1994-03-21"},"entity_type":"gene","entity_name":"MPV17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2475","gene_name":"cystatin C","omim_gene":["604312"],"alias_name":null,"gene_symbol":"CST3","hgnc_symbol":"CST3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:23608534-23619110","ensembl_id":"ENSG00000101439"}},"GRch38":{"90":{"location":"20:23626706-23638473","ensembl_id":"ENSG00000101439"}}},"hgnc_date_symbol_changed":"1990-02-06"},"entity_type":"gene","entity_name":"CST3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["22435454","8866434","2602413","8108423"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral amyloid angiopathy MIM#105150"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3961,"hash_id":null,"name":"Cerebral amyloid angiopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains the genes that are associated with cerebral amyloid angiopathy.\r\n\r\nFor differential diagnoses, the early-onset dementia panel is more suitable.","status":"public","version":"1.1","version_created":"2022-11-22T17:58:32.163408+11:00","relevant_disorders":["Cerebral amyloid angiopathy","HP:0011970"],"stats":{"number_of_genes":7,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP761H171","bA11D8.2.1"],"biotype":"protein_coding","hgnc_id":"HGNC:19903","gene_name":"Ras related GTP binding D","omim_gene":["608268"],"alias_name":null,"gene_symbol":"RRAGD","hgnc_symbol":"RRAGD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:90074355-90121989","ensembl_id":"ENSG00000025039"}},"GRch38":{"90":{"location":"6:89364636-89412270","ensembl_id":"ENSG00000025039"}}},"hgnc_date_symbol_changed":"2003-07-07"},"entity_type":"gene","entity_name":"RRAGD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34607910"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inherited renal tubular disease, MONDO:0015962, RRAGD-related","dilated cardiomyopathy","hypomagnesaemia","renal salt-wasting","nephrocalcinosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLC-7","OPTA2","CLC7","ClC-7","PPP1R63"],"biotype":"protein_coding","hgnc_id":"HGNC:2025","gene_name":"chloride voltage-gated channel 7","omim_gene":["602727"],"alias_name":["protein phosphatase 1, regulatory subunit 63"],"gene_symbol":"CLCN7","hgnc_symbol":"CLCN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1494935-1525581","ensembl_id":"ENSG00000103249"}},"GRch38":{"90":{"location":"16:1444934-1475580","ensembl_id":"ENSG00000103249"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CLCN7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19507210","11207362","11741829","14584882","19953639"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Osteopetrosis, autosomal recessive 4, MIM#611490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11604","gene_name":"T-box 5","omim_gene":["601620"],"alias_name":null,"gene_symbol":"TBX5","hgnc_symbol":"TBX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:114791736-114846247","ensembl_id":"ENSG00000089225"}},"GRch38":{"90":{"location":"12:114353931-114408442","ensembl_id":"ENSG00000089225"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"TBX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301290"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Holt-Oram syndrome MONDO:0007732"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4422,"hash_id":null,"name":"Cardiac conduction disease","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.","status":"public","version":"1.6","version_created":"2026-02-19T13:33:52.737749+11:00","relevant_disorders":["Cardiac conduction abnormality","HP:0031546"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ32940"],"biotype":"protein_coding","hgnc_id":"HGNC:26564","gene_name":"axonemal dynein light chain domain containing 1","omim_gene":null,"alias_name":null,"gene_symbol":"AXDND1","hgnc_symbol":"AXDND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:179334855-179523870","ensembl_id":"ENSG00000162779"}},"GRch38":{"90":{"location":"1:179365720-179554735","ensembl_id":"ENSG00000162779"}}},"hgnc_date_symbol_changed":"2011-02-18"},"entity_type":"gene","entity_name":"AXDND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40457935"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, AXDND1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ovastacin","SAS1B"],"biotype":"protein_coding","hgnc_id":"HGNC:31704","gene_name":"astacin like metalloendopeptidase","omim_gene":["608860"],"alias_name":["sperm acrosomal SLLP1 binding"],"gene_symbol":"ASTL","hgnc_symbol":"ASTL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:96789589-96804175","ensembl_id":"ENSG00000188886"}},"GRch38":{"90":{"location":"2:96123850-96138436","ensembl_id":"ENSG00000188886"}}},"hgnc_date_symbol_changed":"2004-07-01"},"entity_type":"gene","entity_name":"ASTL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34704130","37640117","37133443"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oocyte/zygote/embryo maturation arrest 11, MIM# 619643"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMPD4","FLJ32040","TMD","CMH9","LGMD2J","MYLK5"],"biotype":"protein_coding","hgnc_id":"HGNC:12403","gene_name":"titin","omim_gene":["188840"],"alias_name":null,"gene_symbol":"TTN","hgnc_symbol":"TTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179390716-179695529","ensembl_id":"ENSG00000155657"}},"GRch38":{"90":{"location":"2:178525989-178830802","ensembl_id":"ENSG00000155657"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"TTN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36977548","38148006","29575618"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Lethal congenital contracture syndrome, MONDO:0017436"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}